Unilateral congenital short femur: a case report.

abstract：OBJECTIVE:To investigate the incidence of structural and chromosomal abnormalities in cases of fetal edema on early ultrasound prior to non-invasive prenatal testing (NIPT). METHODS:A retrospective study of women undergoing pre-NIPT ultrasound with fetal crown-rump length (CRL) of 28 to 44 mm was conducted at a tertia...

journal_title：Prenatal diagnosis

authors： Ramkrishna J,Menezes M,Humnabadkar K,Tse C,Maxfield MJ,da Silva Costa F,Rolnik DL,Meagher S

更新日期：2020-10-17 00:00:00

abstract：OBJECTIVE:Cell-free DNA (cfDNA) screening for aneuploidy was clinically introduced in 2011. We aim to focus on the follow-up information from a single tertiary center undergoing genome-wide cfDNA screening to evaluate this technology. METHOD:A total of 32 431 cases were retrospectively reviewed. The screening was perf...

journal_title：Prenatal diagnosis

authors： Liang D,Lin Y,Qiao F,Li H,Wang Y,Zhang J,Liu A,Ji X,Ma D,Jiang T,Hu P,Xu Z

更新日期：2018-09-01 00:00:00

abstract：:Fourteen (2.5 per cent) of 568 chromosome preparations after CVS showed discrepancies between the placental and fetal karyotype, mainly due to placental mosaicism. The presence of a second cell line within the placenta was confirmed in all but one case, in which cytogenetic reinvestigations were carried out. Our clini...

journal_title：Prenatal diagnosis

authors： Schwinger E,Seidl E,Klink F,Rehder H

更新日期：1989-09-01 00:00:00

abstract：OBJECTIVES:Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently, there is debate about the most appropriate invasive method. We sough...

journal_title：Prenatal diagnosis

authors： Grati FR,Bajaj K,Malvestiti F,Agrati C,Grimi B,Malvestiti B,Pompilii E,Maggi F,Gross S,Simoni G,Ferreira JC

更新日期：2015-10-01 00:00:00

abstract：OBJECTIVE:Accounting for possible recombinations in developing an accurate preimplantation genetic diagnosis (PGD) protocol based on familial haplotypes. METHODS:Haplotypes were constructed from genomic DNA in a family where the male was affected with tuberous sclerosis complex (TSC). Embryos were biopsied at day 3, a...

journal_title：Prenatal diagnosis

authors： Altarescu G,Eldar Geva T,Brooks B,Margalioth E,Levy-Lahad E,Renbaum P

更新日期：2008-10-01 00:00:00

abstract：:In order to investigate whether systemic arteriovenous fistula occurring during the fetal period could induce pulmonary hypertension at birth, a fistula was surgically created between the carotid artery and jugular vein of fetal lambs at 120 days' gestation. Mean pressures in the left pulmonary artery, aorta, atrium a...

journal_title：Prenatal diagnosis

authors： Jouannic JM,Martinovic J,Roussin R,Laborde F,Dumez Y,Dinh-Xuan AT

更新日期：2002-01-01 00:00:00

abstract：OBJECTIVES:(1) Assess sensitivity of the measurement of nuchal translucency (NT), for the prenatal screening of congenital heart defect (CHD) on population-based data; (2) examine whether the sensitivity of NT varies for specific types of cardiac defects. METHODS:Using population-based data of the Paris Registry of Co...

journal_title：Prenatal diagnosis

authors： Jouannic JM,Thieulin AC,Bonnet D,Houyel L,Lelong N,Goffinet F,Khoshnood B

更新日期：2011-12-01 00:00:00

abstract：:Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by severe nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions. We have previously shown that mutations in keratin K16 cause fragility of specific epithelia resulting in phenotypes of ...

journal_title：Prenatal diagnosis

authors： Smith FJ,McKusick VA,Nielsen K,Pfendner E,Uitto J,McLean WH

更新日期：1999-10-01 00:00:00

abstract：:We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal...

journal_title：Prenatal diagnosis

authors： Webb AL,Sturgiss S,Warwicker P,Robson SC,Goodship JA,Wolstenholme J

更新日期：1996-10-01 00:00:00

abstract：OBJECTIVE:To examine the cost and performance implications of introducing cell-free fetal DNA (cffDNA) testing within modeled scenarios in a publicly funded Canadian provincial Down syndrome (DS) prenatal screening program. METHOD:Two clinical algorithms were created: the first to represent the current screening progr...

journal_title：Prenatal diagnosis

authors： Okun N,Teitelbaum M,Huang T,Dewa CS,Hoch JS

更新日期：2014-04-01 00:00:00

abstract：OBJECTIVES:We hypothesized that increased facility with fetal echocardiographic diagnosis by obstetricians is associated with changes in its indications and yields. METHODS:We reviewed 300 fetal echocardiograms (December 2002-August 2003) and compared our findings with previous studies. RESULTS:Mean maternal age was ...

journal_title：Prenatal diagnosis

authors： Friedberg MK,Silverman NH

更新日期：2004-10-01 00:00:00

abstract：OBJECTIVES:The objective of this study was to identify maternal characteristics associated with a failed cell-free DNA (cfDNA) test due to a low fetal fraction (FF). METHOD:Retrospective cohort study of women with singleton pregnancies who had cfDNA screening at 10-25 weeks gestation between October 2011 and January 2...

journal_title：Prenatal diagnosis

authors： Burns W,Koelper N,Barberio A,Deagostino-Kelly M,Mennuti M,Sammel MD,Dugoff L

更新日期：2017-11-01 00:00:00

abstract：:Prenatal diagnosis of Duchenne and Becker muscular dystrophy is performed as a routine procedure in many laboratories around the world, using numerous molecular genetic techniques. Rather than discussing methods that are commonly in use, this review concentrates on some of the methods that are less widely available. T...

journal_title：Prenatal diagnosis

authors： Abbs S

更新日期：1996-12-01 00:00:00

abstract：OBJECTIVE:To assess whether existing weight correction formulas for PAPP-A and free-beta-hCG developed for weeks 11 to 14 can be applied to pregnancies in weeks 8 to 10. METHODS:Development of formulas based on limited data sets of 8- to 10-week pregnancies and comparison with existing formulas. Calculation of median ...

journal_title：Prenatal diagnosis

authors： Sørensen T,Larsen SO,Christiansen M

更新日期：2005-06-01 00:00:00

abstract：:In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, R...

journal_title：Prenatal diagnosis

authors：

更新日期：2001-01-01 00:00:00

abstract：OBJECTIVE:The objective of this article is to evaluate the longitudinal changes in uterine artery Doppler pulsatility index (UtA-PI) in pregnancies complicated with early onset intrauterine growth restriction (IUGR). METHOD:Case-control study comparing UtA-PI from 20 to 34 weeks gestation in pregnancies affected by IU...

journal_title：Prenatal diagnosis

authors： Contro E,Cha DH,De Maggio I,Ismail SY,Falcone V,Gabrielli S,Farina A

更新日期：2014-12-01 00:00:00

abstract：:Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational ...

journal_title：Prenatal diagnosis

authors： Chen CP,Shih JC,Lee CC,Chen LF,Wang W,Wang TY

更新日期：1999-09-01 00:00:00

abstract：:A method is described which uses the Hind III polymorphism in intron 19 of the factor VIII gene for genomic family analysis and prenatal diagnosis by the polymerase chain reaction. The primers derived from the exon 19 and 20 sequences allow amplification of the whole intron 19 resulting in a 730 bp fragment. Hind III ...

journal_title：Prenatal diagnosis

authors： Wehnert M,Shukova EL,Surin VL,Schröder W,Solovjev GYa,Herrmann FH

更新日期：1990-08-01 00:00:00

abstract：:In the case-control study of 118 women with autosomal trisomy identified at prenatal diagnosis and their 442 karyotypically normal matched controls, we found that there was no overall association between risk of trisomy and the presence of vaginal bleeding during pregnancy. However, a lengthy duration of bleeding appe...

journal_title：Prenatal diagnosis

authors： Neugut RH,Lustenberger A,Nicholas A,Kline J,Warburton D

更新日期：1987-11-01 00:00:00

abstract：:Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3.91 at theta = 0). In a family in w...

journal_title：Prenatal diagnosis

authors： Zlotogora J,Granat M,Knowlton RG

更新日期：1994-02-01 00:00:00

abstract：:Prenatal screening using the maternal serum markers alpha-fetoprotein, human chorionic gonadotropin, and unconjugated oestriol was investigated in a native Japanese population. Comparison with a Caucasian U.S. population revealed differences which led to modification of the generally used equations for risk calculatio...

journal_title：Prenatal diagnosis

authors： Onda T,Kitagawa M,Takeda O,Sago H,Kubonoya K,Iinuma K,Bradley LA,Canick JA,Krasikov NE,Ponting NR,Grier RE

更新日期：1996-08-01 00:00:00

abstract：OBJECTIVE:To present fetal magnetic resonance imaging (MRI) ocular measurement ranges by gestational age (GA) in normal and growth-restricted fetuses. METHODS:A total of 298 pregnant women from the 18th to the 39th week of gestation were imaged using MRI. Ocular measurements including binocular distance (BOD), interoc...

journal_title：Prenatal diagnosis

authors： Li XB,Kasprian G,Hodge JC,Jiang XL,Bettelheim D,Brugger PC,Prayer D

更新日期：2010-11-01 00:00:00

abstract：OBJECTIVE:To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing. METHODS:Microarray analysis using either whole-genome bacterial artificial chromosome (BAC)-based and oligonucleot...

journal_title：Prenatal diagnosis

authors： Coppinger J,Alliman S,Lamb AN,Torchia BS,Bejjani BA,Shaffer LG

更新日期：2009-12-01 00:00:00

abstract：OBJECTIVE:To present the results of 10 years of quantitative fluorescence PCR (QF-PCR) analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This represents the largest QF-PCR data set from a single testing centre. METHODS:QF-PCR analysis using a single assay containing 17 microsatellite mar...

journal_title：Prenatal diagnosis

authors： Mann K,Hills A,Donaghue C,Thomas H,Ogilvie CM

更新日期：2012-12-01 00:00:00

abstract：:Quantitative fluorescent polymerase chain reaction has been in diagnostic use in the UK for over 10 years and has proved to be a cost-effective, robust and accurate rapid prenatal test for common aneuploidies. Specific advantages include detection of triploidy, mosaicism and maternal cell contamination. Its applicatio...

journal_title：Prenatal diagnosis

authors： Mann K,Ogilvie CM

更新日期：2012-04-01 00:00:00

abstract：:We have developed a two-colour immunocytochemical staining method for the detection of fetal and embryonic haemoglobin in erythroid cells. The method was applied to study these haemoglobin types in fetal red cells. Specimens from fetal blood (10 weeks), cord blood and fetal liver (14 weeks) as well as chorionic villus...

journal_title：Prenatal diagnosis

authors： Mesker WE,Ouwerkerk-van Velzen MC,Oosterwijk JC,Bernini LF,Golbus MS,Kanhai HH,Van Ommen GJ,Tanke HJ

更新日期：1998-11-01 00:00:00

abstract：:The purpose of this study was to measure anxiety in pregnant women who had low maternal serum alpha-fetoprotein (MSAFP) screening test levels, received genetic counselling and chose to undergo amniocentesis for fetal chromosome analysis. Their anxiety levels were compared with the levels in women undergoing amniocente...

journal_title：Prenatal diagnosis

authors： Abuelo DN,Hopmann MR,Barsel-Bowers G,Goldstein A

更新日期：1991-06-01 00:00:00

abstract：:We have evaluated the effect of maternal intravenous immunoglobulin G (ivIgG) treatment on platelet counts in fetal alloimmune thrombocytopenia. Seven patients were studied. All of them were multiparous women who had been immunized against the HPA-1a antigen during previous pregnancies and had given birth to at least ...

journal_title：Prenatal diagnosis

authors： Giers G,Hoch J,Bauer H,Bald R,Kiefel V,Kroll H,Hansmann M,Hanfland P,Mueller-Eckhardt C,Scharf RE

更新日期：1996-06-01 00:00:00

abstract：OBJECTIVES:A case of prenatally diagnosed trisomy 11 mosaicism with a normal outcome is reported and the medical literature on prenatal detection of this finding is reviewed. METHODS:Proportion of cells with trisomy 11 was evaluated in amniocytes, fetal blood lymphocytes, newborn fibroblasts and urinary epithelial cel...

journal_title：Prenatal diagnosis

authors： Basel-Vanagaite L,Davidov B,Friedman J,Yeshaya Y,Magal N,Drasinover V,Shohat M

更新日期：2006-09-01 00:00:00

abstract：:In this paper we report the fetal loss rate in relation to both maternal and gestational age in 1764 pregnant women who underwent transabdominal chorionic villus sampling (TA-CVS) between January 1986 and August 1990. The fetal loss rate, considered as a proportion of continuing pregnancies, decreased with advancing g...

journal_title：Prenatal diagnosis

authors： Monni G,Ibba RM,Lai R,Giuseppina C,Silvia M,Olla G,Cao A

更新日期：1992-10-01 00:00:00